- Clinical Biochemistry
- Human Genetics
- Immunology & General Pathology
Roots and Mission
Approximately 60 years have passed since L Pauling (shown above) and his colleagues reported that haemoglobin from patients with sickle cell anemia differed in physico-chemical terms from normal haemoglobin , a discovery that constituted the foundation of Molecular Medicine. Molecular Medicine is the medical deployment of Molecular Biology, a scientific discipline that developed in the second half of the 20th century, whose conceptual remit is the reduction of biological systems to physics and chemistry and whose aim is the understanding of biological processes at the molecular level.Due to advances in high throughput methods for DNA and RNA sequencing beyond the classic F Sanger procedure and in protein identification and analysis via mass spectrometry, X-ray crystallography, electron microscopy, etc Molecular Medicine has emerged as a paradigm for modern Medicine in which elucidation of disease mechanism, advances in diagnosis and the search for new therapies build on a thorough understanding of the molecules that constitute the cells, tissues and organs of the human body and their changes during the disease process.
The Department of Molecular Medicine of the University of Pavia embraces this paradigm and aims to build a stronger bridge between basic research in Biochemistry, Physiology, Immunology and General Pathologywith patient-based studies in Human Genetics, Clinical Biochemistry, Pathology, Cardiology and Haematology.
There are seven groups in the Unit of Biochemistry researching DNA replication and repair (AMB), protein folding and the role of protein misfoliding in disease (VB), the genetic basis of analbunaemia (MG/LM), the genetics and biochemistry of the extracellular matrix and its changes in disease (AR/AF), bacterial proteins responsible for adhesion and invasion (PS) and the application of novel biomaterials and stem cells in tissue engineering (LV).
The four groups active in the Unit of Physiology research on motor proteins and pathophysiological mechanisms of muscle adaptation (RB), osteogenesis (GG), water and calcium channels (UL) and ubiquitin -dependent mechanisms of protein degradation (VR).
Research in the Unit of Immunology and General Pathology involves studies on cancer biology, notably invasion and metastasis and antibody engineering for therapy (EG), the role of inflammation in diseases of the brain (RP), the regulation and interlink between the cell cycle and DNA repair (LS) and enzymes as target or tools for controlling cell proliferation and angiogenesis (CS).
The Unit of Human Genetics has active research programmes on diseases caused by chromosomal/gene abnormalities including neural/psychiatric diseases (RC), hereditary haemorragic teleangiectasia and glycogenosis (CD), familial lung diseases (ER), and disorders of sex determination (OZ). The Unit also has a strong interest in new methodologies for prenatal diagnosis.
The two groups active in the Unit of Clinical Biochemistry focus on understanding the physiological process leading to the formation of blood platelets and new methods for in vitro platelet production (AB) and the study of new biomarkers and new management strategies for amyloidosis as a key example of tissue-specific or systemic pathologies caused by misfolded proteins (GM).
The Unit of Pathology has programmes of research on human cancers caused by human papilloma virus and genetic profiling of lung fibrosis and cancer (PM) and the genetic and clinico-pathological analysis of B cell lymphomas (MP).
Reserch in the Unit of Cardiology includes studies on mutations disrupting Ca signalling and causing long QT syndromes (LC), novel approaches to heart regeneration (MG), autonomic modulation in heart failure (GDF), genetic arrhythmias and sudden cardiac death (SP), and the management of acute coronary syndromes (SDS).
The Unit of Haematology focuses on pathogenesis and new therapeutic approaches to B-cell lymphomas/leukaemias (LA), Fanconi’s anaemia and cell transplantation in lymphomas (PB) and the genetic basis of myelodysplasticmyeloproliferative tumours (LM and MC). Sickle Cell Anemia, a Molecular Disease. Pauling L et al. Science 109:443 and 110:543-8 (1949).